Canonical Allele Identifier: CA413704237

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763960T>A (hg19) ; chrX:g.77508482T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508482T>A , CM000685.2:g.77508482T>A	GRCh38
NC_000023.10:g.76763960T>A , CM000685.1:g.76763960T>A	GRCh37
NC_000023.9:g.76650616T>A	NCBI36
NG_008838.2:g.282740A>T
NG_008838.3:g.282788A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7348A>T MANE Select	ENSP00000362441.4:p.Asn2450Tyr
ENST00000675732.1:c.2446A>T	ENSP00000502598.1:p.Asn816Tyr
ENST00000373344.9:c.7348A>T	ENSP00000362441.4:p.Asn2450Tyr
ENST00000395603.7:c.7234A>T	ENSP00000378967.3:p.Asn2412Tyr
ENST00000480283.5:c.*6976A>T	ENSP00000480196.1:n.*6976A>T
ENST00000623706.3:n.5668A>T
ENST00000624766.1:n.579A>T
NM_000489.4:c.7348A>T	NP_000480.3:p.Asn2450Tyr
NM_138270.3:c.7234A>T	NP_612114.2:p.Asn2412Tyr
XM_005262153.3:c.7345A>T	XP_005262210.2:p.Asn2449Tyr
XM_005262154.3:c.7261A>T	XP_005262211.2:p.Asn2421Tyr
XM_005262155.3:c.7231A>T	XP_005262212.2:p.Asn2411Tyr
XM_005262156.3:c.7183A>T	XP_005262213.2:p.Asn2395Tyr
XM_005262157.3:c.7144A>T	XP_005262214.2:p.Asn2382Tyr
XM_006724666.2:c.7231A>T	XP_006724729.1:p.Asn2411Tyr
XM_006724667.2:c.7069A>T	XP_006724730.1:p.Asn2357Tyr
XR_938400.1:n.8940A>T
NM_000489.5:c.7348A>T	NP_000480.3:p.Asn2450Tyr
XM_005262153.5:c.7345A>T	XP_005262210.2:p.Asn2449Tyr
XM_005262154.5:c.7261A>T	XP_005262211.2:p.Asn2421Tyr
XM_005262155.4:c.7231A>T	XP_005262212.2:p.Asn2411Tyr
XM_005262156.4:c.7183A>T	XP_005262213.2:p.Asn2395Tyr
XM_005262157.5:c.7144A>T	XP_005262214.2:p.Asn2382Tyr
XM_006724666.4:c.7231A>T	XP_006724729.1:p.Asn2411Tyr
XM_006724667.3:c.7069A>T	XP_006724730.1:p.Asn2357Tyr
XM_017029601.2:c.7258A>T	XP_016885090.1:p.Asn2420Tyr
XM_017029602.1:c.7228A>T	XP_016885091.1:p.Asn2410Tyr
XM_017029603.1:c.7180A>T	XP_016885092.1:p.Asn2394Tyr
XM_017029604.2:c.7147A>T	XP_016885093.1:p.Asn2383Tyr
XM_017029605.1:c.7144A>T	XP_016885094.1:p.Asn2382Tyr
XM_017029606.2:c.7117A>T	XP_016885095.1:p.Asn2373Tyr
XM_017029607.2:c.7114A>T	XP_016885096.1:p.Asn2372Tyr
XM_017029608.2:c.7066A>T	XP_016885097.1:p.Asn2356Tyr
XM_017029609.1:c.7030A>T	XP_016885098.1:p.Asn2344Tyr
XM_017029610.1:c.7027A>T	XP_016885099.1:p.Asn2343Tyr
XM_017029611.1:c.6982A>T	XP_016885100.1:p.Asn2328Tyr
XR_001755700.2:n.7647A>T
NM_138270.4:c.7234A>T	NP_612114.2:p.Asn2412Tyr
NM_000489.6:c.7348A>T MANE Select	NP_000480.3:p.Asn2450Tyr
NM_138270.5:c.7234A>T	NP_612114.2:p.Asn2412Tyr